scholarly journals Towards Similarity-based Differential Diagnostics For Common Diseases

2021 ◽  
Author(s):  
Luke T Slater ◽  
Andreas Karwath ◽  
John A Williams ◽  
Sophie Russell ◽  
Silver Makepeace ◽  
...  

AbstractOntology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease domains. Particularly, semantic similarity facilitates diagnostic hypothesis generation through comparison with disease phenotype profiles. However, the approach has not been applied for differential diagnosis of common diseases, or generalised clinical diagnostics from uncurated text-derived phenotypes. In this work, we describe the development of an approach for deriving patient phenotype profiles from clinical narrative text, and apply this to text associated with MIMIC-III patient visits. We then explore the use of semantic similarity with those text-derived phenotypes to classify primary patient diagnosis, comparing the use of patient-patient similarity and patient-disease similarity using phenotype-disease profiles previously mined from literature. The results reveal a potentially powerful approach that can be applied to a variety of clinical tasks, such as differential diagnosis, cohort discovery, document and text classification, and outcome prediction.

2019 ◽  
Vol 41 part 3 (2) ◽  
pp. 69-73
Author(s):  
M. A. Trishchynskaya ◽  
V. A. Svystilnyk

The purpose of the study. The aim of the publication was to make analysis neurological symptoms peculiarities in patients with the glucose transporter type I deficiency syndrome and to make differential diagnostics with other diseases. There are main clinical symptoms in the patients with glucose transporter type I deficiency syndrome. They include attacks of seizures, movement disorders: paresis, plegia, paroxysmal induced dyskinesias, ballismus, tremor, athetosis, dystonia, ataxia. The glucose transporter type I deficiency syndrome clinical characteristics have been added by the delays of the movement, cognitive development, behavior disorders, head ache. Hardness of the clinical symptoms may fluctuate during a day and depends from the period of eating. The plan for differentiation diagnostics and identification of the neurodegenerative diseases was presented in the article. Keywords:neurodegenerative diseases diagnostics, glucose transporter type I deficiency syndrome.


Author(s):  
Mateja Vinkšel ◽  
Karin Writzl ◽  
Aleš Maver ◽  
Borut Peterlin

AbstractAccording to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare diseases is still challenging. Introduction of novel methods based on next-generation sequencing (NGS) technology offers a successful diagnosis of genetically heterogeneous disorders, even in case of unclear clinical diagnostic hypothesis. However, the application of novel technology differs among the centres and health systems significantly. Our goal is to discuss the impact of the implementation of NGS in the diagnosis of rare diseases and present advantages along with challenges of diagnostic approach. Systematic implementation of NGS in health systems can significantly improve the access of patients with rare diseases to diagnosis and reduce the dependence of national health systems for cross-border collaboration.


Author(s):  
Toyofumi Fujiwara ◽  
Jae-Moon Shin ◽  
Atsuko Yamaguchi

Over 7,000 rare genetic diseases have been identified, and millions of newborns are affected by severe rare genetic diseases each year. A variety of Human Phenotype Ontology (HPO)-based clinical decision support systems (CDSS) and patient repositories have been developed to support clinicians in diagnosing patients with suspected rare genetic diseases. In September 2017, we released PubCaseFinder (https://pubcasefinder.dbcls.jp), a web-based CDSS that provides ranked lists of genetic and rare diseases using HPO-based phenotypic similarities, where top-listed diseases represent the most likely differential diagnosis. We also developed a Matchmaker Exchange (MME) application programming interface (API) to query PubCaseFinder, which has been adopted by several patient repositories. In this paper, we describe notable updates regarding PubCaseFinder, the GeneYenta matching algorithm implemented in PubCaseFinder, and the PubCaseFinder API. The updated GeneYenta matching algorithm improves the performance of the CDSS automated differential diagnosis function. Moreover, the updated PubCaseFinder and new API empower patient repositories participating in MME and medical professionals to actively use HPO-based resources.


2020 ◽  
Vol 24 (3) ◽  
pp. 63-75
Author(s):  
Yu. A. Stepanova ◽  
M. Z. Alimurzaeva ◽  
D. A. Ionkin

The incidence of focal lesions in the spleen is 3.2–4.2% per 100,000 population. Spleen cysts are rare (incidence 0.75 per 100,000). These are single or multiple, thin- and smooth-walled cavities filled with a transparent liquid. Distinguish between primary (or true) cysts, lined with epithelium, and secondary (or false), devoid of epithelial lining. Among the primary cysts, there are congenital cysts formed in the embryonic period due to the migration of peritoneal cells into the spleen tissue, dermoid and epidermoid cysts. A special group of primary cysts are parasitic cysts. Cystic tumors of the spleen include lymphangioma and lymphoma.The main difficulties in the diagnosis and differential diagnosis of cysts and cystic tumors of the spleen are associated with the rarity of this pathology and, as a consequence, a small number of works, including a significant number of the cases. However, in those works where a large number of the cases are described, most often this is one morphological form and an analysis of its various characteristics.Purpose. Based on the analysis of our own examination data of a significant number of patients with cysts and cystic tumors of the spleen, to assess the possibility of differential diagnosis of individual morphological forms according to ultrasound data.Materials and methods. 323 patients with cysts and cystic tumors of the spleen from 15 to 77 years old (men – 105 (32.5%); women – 218 (67.5%) were treated at A.V. Vishnevsky National Medical Research Center of Surgery for the period from 1980 to 2020. All patients underwent ultrasound during examination. Surgical treatment was carried out in various ways – (85.1%), when making a preoperative diagnosis of an uncomplicated spleen cyst of small size, dynamic observation was carried out (verification by puncture biopsy data).Results. Morphological verification of cysts and cystic tumors of the spleen was presented as follows (taking into account possible difficulties in identifying the epithelial lining): true cyst – 182 (56.4%); dermoid cyst – 3 (0.9%) (malignant – in 1 case); pseudocyst – 16 (5.0%); pancreatogenic – 34 (10.5%); echinococcus – 52 (16.1%); lymphangioma – 24 (7.4%); lymphoma – 10 (3.1%); ovarian cancer metastasis – 2 (0.6%). The article describes the ultrasound signs of the above forms of the lesions with an emphasis on the complexity of diagnosis.Conclusions. Primary and parasitic spleen cysts are well differentiated according to ultrasound; false cysts of the spleen, depending on the cause of their occurrence, can create difficulties in their identification and differentiation (they require careful dynamic control); cystic tumors of the spleen should be differentiated from malignant tumors and metastases of a cystic structure, as a result of which such vigilance should always be present when they are detected.


Author(s):  
Michał Nowicki ◽  
Stanisława Bazan-Socha ◽  
Mariusz Kłopotowski ◽  
Beata Błażejewska-Hyżorek ◽  
Mariusz Kusztal ◽  
...  

Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson–Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson–Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.


Cells ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 820
Author(s):  
Lorena Kumarasinghe ◽  
Lu Xiong ◽  
Maria Adelaida Garcia-Gimeno ◽  
Elisa Lazzari ◽  
Pascual Sanz ◽  
...  

Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.


2012 ◽  
Vol 3 (5) ◽  
pp. 197-203 ◽  
Author(s):  
P. Makrythanasis ◽  
S.E. Antonarakis

Author(s):  
Alex Moretti ◽  
Paola Cianci ◽  
Anita De Paoli ◽  
Francesca Meroni ◽  
Silvia Tajè ◽  
...  

2021 ◽  
Author(s):  
Maria Koromina ◽  
Vasileios Fanaras ◽  
Gareth Baynam ◽  
Christina Mitropoulou ◽  
George P Patrinos

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.


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